ORPHA:645378
Myelic limited dorsal malformation
Synonyms: MyeLDM
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Status
- active
A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myelic limited dorsal malformation | MyeLDM |
| fr | Malformation myélique limitée dorsale | = en |
| de | Myelisch begrenzte dorsale Fehlbildung | = en |
| es | Malformación dorsal limitada mielica | = en |
| it | Malformazione mielica limitata al dorso | = en |
| nl | Myelische beperkte dorsale malformatie | Beperkte dorsale malformatie van ruggenmerg · MyeLDM |
| pt | Malformação da mielina dorsal limitada | = en |
| pl | Ograniczona malformacja części grzbietowej rdzenia kręgowego | = en |
| cs | Myelická omezená dorzální malformace | = en |
| uk | Мієлітична обмежена спинна вада розвитку | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q06.8 | NTBT | attributed | validated |
| MONDO | 0970964 | E | validated | |
| MONDO | 970964 | E | validated | |
| UMLS | C5816714 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:645270Open spinal dysraphism with a posterior meningocele
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:645319Saccular spinal dysraphism with a stalk to the dome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/645378
- This record as JSON: /data/d/645378.json